rs80358217(C;T)
From SNPedia
| Unaffected carrier of a 3HSDB2 deficiency mutation |
| Is a | genotype |
| of | rs80358217 |
| Gene | HSD3B2 |
| Chromosome | 1 |
| Position | 119,422,246 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Unaffected carrier of a 3HSDB2 deficiency mutation |
| (T;T) | 7 | 3HSDB2 deficiency; congenital adrenal hyperplasia |
see discussion at HSD3B2
